Canonical Allele Identifier: CA375046366

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541125-T-G
• MyVariant Identifiers: chr9:g.131303404T>G (hg19) ; chr9:g.128541125T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541125T>G , CM000671.2:g.128541125T>G	GRCh38
NC_000009.11:g.131303404T>G , CM000671.1:g.131303404T>G	GRCh37
NC_000009.10:g.130343225T>G	NCBI36
NG_012073.1:g.41434T>G , LRG_484:g.41434T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1123T>G	ENSP00000507095.1:n.*1123T>G
ENST00000683288.1:c.*2051T>G	ENSP00000507477.1:n.*2051T>G
ENST00000683748.1:c.2079T>G	ENSP00000507377.1:p.Ile693Met
ENST00000683905.1:c.*728T>G	ENSP00000506960.1:n.*728T>G
ENST00000684139.1:c.1587T>G	ENSP00000507295.1:p.Ile529Met
ENST00000684210.1:n.1765T>G
ENST00000684314.1:c.1947T>G	ENSP00000507700.1:p.Ile649Met
ENST00000684331.1:c.*772T>G	ENSP00000507431.1:n.*772T>G
ENST00000684463.1:n.690T>G
ENST00000684646.1:c.1839T>G	ENSP00000507723.1:p.Ile613Met
ENST00000309971.9:c.2052T>G MANE Select	ENSP00000308622.5:p.Ile684Met
ENST00000309971.8:c.2052T>G	ENSP00000308622.4:p.Ile684Met
NM_001003722.1:c.2052T>G , LRG_484t1:c.2052T>G	NP_001003722.1:p.Ile684Met
XM_006717059.2:c.2088T>G	XP_006717122.1:p.Ile696Met
XM_006717060.2:c.2061T>G	XP_006717123.1:p.Ile687Met
XM_011518549.1:c.2088T>G	XP_011516851.1:p.Ile696Met
XM_011518550.1:c.2088T>G	XP_011516852.1:p.Ile696Met
XM_011518551.1:c.2079T>G	XP_011516853.1:p.Ile693Met
XM_011518552.1:c.1329T>G	XP_011516854.1:p.Ile443Met
XR_242681.3:n.100+2254A>C
XM_006717059.3:c.2088T>G	XP_006717122.1:p.Ile696Met
XM_006717060.3:c.2061T>G	XP_006717123.1:p.Ile687Met
XM_011518551.2:c.2079T>G	XP_011516853.1:p.Ile693Met
XM_024447519.1:c.2061T>G	XP_024303287.1:p.Ile687Met
NM_001003722.2:c.2052T>G MANE Select	NP_001003722.1:p.Ile684Met